North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)



Status:Recruiting
Conditions:Women's Studies, Gastrointestinal
Therapuetic Areas:Gastroenterology, Reproductive
Healthy:No
Age Range:Any
Updated:2/1/2017
Start Date:December 2010
End Date:December 2025
Contact:Michio Hirano, MD
Email:NAMDC@columbia.edu
Phone:12123051048

Use our guide to learn which trials are right for you!

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact
registry and tissue biorepository for patients with mitochondrial disorders.

Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very
serious genetic disorders. Mitochondria are often called the "powerhouses of the cell"
because they provide the energy our cells need to live. Mitochondria have their own DNA
(mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are
caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning
mitochondria. This can cause a variety of symptoms including muscle weakness, seizures,
mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature
death. Most mitochondrial diseases are progressive, and we are unable to cure most of these
diseases with currently available treatments.

Research into mitochondrial diseases has been hampered by the low frequency of these
disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for
research studies and clinical trials. The North American Mitochondrial Disease Consortium
(NAMDC) was established to help surmount these issues. Led jointly by Drs. Michio Hirano and
Salvatore DiMauro, NAMDC is a consortium of several clinicians and researchers with an
interest in mitochondrial disease research in the United States and Canada.

By creating a mechanism for the sharing of patient samples with researchers, data and
patient contact information, NAMDC will make it easier to conduct clinical and basic
laboratory research.

Patient information will be shared through the use of the "Patient Data Registry," a
specially-designed database, and patient tissue samples will be shared through the use of
the "Patient Sample Biorepository", a storage facility in which patient-derived biological
samples will be maintained. The Registry and the Biorepository will hopefully accelerate
progress in the understanding and treatment of mitochondrial disease.

Inclusion Criteria:

- Patients diagnosed with or suspected to have a mitochondrial disorder

- Adult carriers of known mitochondrial DNA mutations

- Patients with laboratory analysis indicative of a mitochondrial disorder.

- Medical information and tissue samples are also accepted from deceased individuals
who fulfill the above criteria.

Exclusion Criteria:

- Patients not suspected of having a mitochondrial disorder

- Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that
affects mitochondrial function.
We found this trial at
16
sites
185 Cambridge Street
Boston, Massachusetts 02114
617-724-5200
Principal Investigator: Amel Karaa, MD
Phone: 617-355-6117
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1 Perkins Square
Akron, Ohio 44308
(330) 543-1000
Principal Investigator: Bruce Cohen, MD
Phone: 330-543-6048
Akron Children's Hospital From humble beginnings as a day nursery in 1890, Akron Children
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Akron, OH
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9500 Euclid Avenue
Cleveland, Ohio 44106
216.444.2200
Principal Investigator: Sumit Parikh, MD
Phone: 216-444-1994
Cleveland Clinic Cleveland Clinic is committed to principles as presented in the United Nations Global...
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Cleveland, OH
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1200 Moursund Street
Houston, Texas 77030
(713) 798-4951
Principal Investigator: William Craigen, MD
Phone: 713-798-8305
Baylor College of Medicine Baylor College of Medicine in Houston, the only private medical school...
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Houston, TX
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South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Marni J Falk, MD
Phone: 215-590-4564
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Philadelphia, PA
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13123 E 16th Ave
Aurora, Colorado 80045
(720) 777-1234
Principal Investigator: Johan Van Hove, MD PhD MBA
Phone: 303-724-2351
Children's Hospital Colorado At Children's Hospital Colorado, we see more, treat more and heal more...
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Aurora, CO
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Clevland, Ohio 44106
Principal Investigator: Charles Hoppel, MD
Phone: 216-368-3147
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Clevland, OH
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205 Matherly hall
Gainsville, Florida 32611
Principal Investigator: Peter Stacpole, MD
Phone: 352-265-8909
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Gainsville, FL
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Hamilton, Ontario
Principal Investigator: Mark Tarnopolsky, MD
Phone: 19055212100
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Hamilton,
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630 W 168th St
New York, New York
212-305-2862
Principal Investigator: Michio Hirano, MD
Phone: 212-305-1048
Columbia University Medical Center Situated on a 20-acre campus in Northern Manhattan and accounting for...
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New York, NY
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3414 Fifth Avenue
Pittsburgh, Pennsylvania 15213
Principal Investigator: Amy Goldstein, MD
Phone: 412-692-5520
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Rochester, Minnesota 55905
Principal Investigator: Ralitza Gavrilova, MD
Phone: 507-284-2511
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Rochester, MN
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San Diego, California 92093
Principal Investigator: Robert Naviaux, MD
Phone: 858-822-6700
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San Diego, CA
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Seattle, Washington 98105
Principal Investigator: Russell Saneto, DO PhD
Phone: 206-987-2100
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Stanford, California 94305
Principal Investigator: Gregory Enns, MD
Phone: 650-723-6858
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Washington DC, District of Columbia 20010
Principal Investigator: Andrea Gropman, MD
Phone: 202-476-3511
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